Protein JBTS17
The CPLANE1 gene is not yet fully characterized it is involved in autosomal recessive Joubert syndrome and orofaciodigital syndrome 6.
Genetests:
Related Diseases:
References:
1. |
Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
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2. |
Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
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3. |
Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
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4. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
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5. |
Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.
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6. |
Orphanet article
Orphanet ID 299619
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7. |
NCBI article
NCBI 65250
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8. |
OMIM.ORG article
Omim 614571
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Update: Aug. 14, 2020